Canonical Allele Identifier: CA124154
Gene: KRT17 HGNC NCBI

Linked Data

ClinVar Variation Id: 14590
ClinVar RCV Id: RCV000015692 RCV000056515 RCV000114414 RCV002496374
dbSNP Id: rs28928897
gnomAD v4: 17-41624229-C-T
COSMIC: COSM3402893
MyVariant Identifiers: chr17:g.39780481C>T (hg19) chr17:g.41624229C>T (hg38)
PubMed: PMID:9008238 PMID:11886499
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41624229C>T , CM000679.2:g.41624229C>T GRCh38
NC_000017.10:g.39780481C>T , CM000679.1:g.39780481C>T GRCh37
NC_000017.9:g.37034007C>T NCBI36
NG_008625.1:g.5402G>A
NG_009090.2:g.167484G>A , LRG_401:g.167484G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000311208.13:c.281G>A MANE Select ENSP00000308452.8:p.Arg94His
ENST00000311208.12:c.281G>A ENSP00000308452.8:p.Arg94His
ENST00000463128.5:c.-312-23G>A ENSP00000468672.1:n.-312-23G>A
ENST00000491673.1:n.347G>A
ENST00000493253.5:n.68G>A
ENST00000540235.5:c.71+5G>A ENSP00000441751.2:n.71+5G>A
ENST00000577817.3:c.236G>A ENSP00000467418.1:p.Arg79His
NM_000422.2:c.281G>A NP_000413.1:p.Arg94His
NM_000422.3:c.281G>A MANE Select NP_000413.1:p.Arg94His
Search 100 bp 5'
Search 100 bp 3'